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Warburg micro syndrome 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.
Uniprot Description A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
Mondo Term and Equivalent IDs
MONDO:0014296:  Warburg micro syndrome 4
UMLS:C3810265: